Incidental Mutation 'R9215:Lgr5'
| ID |
699142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lgr5
|
| Ensembl Gene |
ENSMUSG00000020140 |
| Gene Name |
leucine rich repeat containing G protein coupled receptor 5 |
| Synonyms |
Gpr49 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9215 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
115286219-115423685 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115311085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 237
(E237G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020350]
[ENSMUST00000172806]
[ENSMUST00000173740]
|
| AlphaFold |
Q9Z1P4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020350
AA Change: E237G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020350
Gene: ENSMUSG00000020140
AA Change: E237G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LRRNT
|
33 |
70 |
1.43e-5 |
SMART |
|
LRR
|
64 |
88 |
1.41e2 |
SMART |
|
LRR_TYP
|
89 |
112 |
3.44e-4 |
SMART |
|
LRR_TYP
|
113 |
136 |
9.88e-5 |
SMART |
|
LRR_TYP
|
137 |
160 |
9.73e-4 |
SMART |
|
LRR_TYP
|
161 |
184 |
5.21e-4 |
SMART |
|
LRR
|
185 |
208 |
6.22e0 |
SMART |
|
LRR_TYP
|
209 |
232 |
3.89e-3 |
SMART |
|
LRR
|
233 |
255 |
9.75e0 |
SMART |
|
LRR_TYP
|
256 |
279 |
1.38e-3 |
SMART |
|
Blast:LRR
|
281 |
303 |
2e-6 |
BLAST |
|
Blast:LRR
|
304 |
328 |
1e-5 |
BLAST |
|
LRR_TYP
|
351 |
374 |
1.56e-2 |
SMART |
|
LRR
|
375 |
396 |
1.09e2 |
SMART |
|
LRR_TYP
|
397 |
420 |
7.26e-3 |
SMART |
|
LRR
|
421 |
444 |
2.86e-1 |
SMART |
|
low complexity region
|
518 |
533 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
574 |
820 |
9.5e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172806
AA Change: E237G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133860
Gene: ENSMUSG00000020140
AA Change: E237G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LRRNT
|
33 |
70 |
1.43e-5 |
SMART |
|
LRR
|
64 |
88 |
1.41e2 |
SMART |
|
LRR_TYP
|
89 |
112 |
3.44e-4 |
SMART |
|
LRR_TYP
|
113 |
136 |
9.88e-5 |
SMART |
|
LRR_TYP
|
137 |
160 |
9.73e-4 |
SMART |
|
LRR_TYP
|
161 |
184 |
5.21e-4 |
SMART |
|
LRR
|
185 |
208 |
6.22e0 |
SMART |
|
LRR_TYP
|
209 |
232 |
3.89e-3 |
SMART |
|
LRR
|
233 |
255 |
9.75e0 |
SMART |
|
LRR
|
256 |
279 |
6.57e-1 |
SMART |
|
Blast:LRR
|
280 |
304 |
1e-5 |
BLAST |
|
LRR_TYP
|
327 |
350 |
1.56e-2 |
SMART |
|
LRR
|
351 |
372 |
1.09e2 |
SMART |
|
LRR_TYP
|
373 |
396 |
7.26e-3 |
SMART |
|
LRR
|
397 |
420 |
2.86e-1 |
SMART |
|
low complexity region
|
494 |
509 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
550 |
796 |
8.2e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173740
AA Change: E165G
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133707
Gene: ENSMUSG00000020140
AA Change: E165G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LRRNT
|
33 |
70 |
1.43e-5 |
SMART |
|
LRR
|
64 |
88 |
1.41e2 |
SMART |
|
LRR_TYP
|
89 |
112 |
3.44e-4 |
SMART |
|
LRR_TYP
|
113 |
136 |
9.88e-5 |
SMART |
|
LRR_TYP
|
137 |
160 |
9.08e-4 |
SMART |
|
LRR
|
161 |
183 |
9.75e0 |
SMART |
|
LRR_TYP
|
184 |
207 |
1.38e-3 |
SMART |
|
Blast:LRR
|
209 |
231 |
1e-6 |
BLAST |
|
Blast:LRR
|
232 |
256 |
1e-5 |
BLAST |
|
LRR_TYP
|
279 |
302 |
1.56e-2 |
SMART |
|
LRR
|
303 |
324 |
1.09e2 |
SMART |
|
LRR_TYP
|
325 |
348 |
7.26e-3 |
SMART |
|
LRR
|
349 |
372 |
2.86e-1 |
SMART |
|
low complexity region
|
446 |
461 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
502 |
748 |
7.4e-16 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (69/69) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele display 100% neonatal lethality associated with ankyloglossia, gastrointestinal distension, cyanosis and respiratory failure. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(7) : Targeted(7)
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amigo3 |
G |
A |
9: 107,931,638 (GRCm39) |
A354T |
probably damaging |
Het |
| Ano1 |
A |
G |
7: 144,149,342 (GRCm39) |
S840P |
probably damaging |
Het |
| Arap1 |
A |
G |
7: 101,049,214 (GRCm39) |
Q923R |
probably benign |
Het |
| Blk |
T |
C |
14: 63,610,999 (GRCm39) |
M448V |
probably damaging |
Het |
| Calhm2 |
C |
A |
19: 47,121,305 (GRCm39) |
R288L |
possibly damaging |
Het |
| Card11 |
A |
T |
5: 140,866,154 (GRCm39) |
M913K |
possibly damaging |
Het |
| Carf |
A |
C |
1: 60,189,804 (GRCm39) |
E676D |
possibly damaging |
Het |
| Ccn5 |
T |
A |
2: 163,670,966 (GRCm39) |
C158S |
probably damaging |
Het |
| Ccr2 |
A |
G |
9: 123,906,023 (GRCm39) |
D101G |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,123,826 (GRCm39) |
R532G |
possibly damaging |
Het |
| Clec1a |
T |
C |
6: 129,412,134 (GRCm39) |
T112A |
possibly damaging |
Het |
| Clint1 |
T |
C |
11: 45,774,578 (GRCm39) |
V28A |
probably damaging |
Het |
| Col13a1 |
C |
A |
10: 61,685,990 (GRCm39) |
|
probably null |
Het |
| Cryz |
G |
T |
3: 154,324,446 (GRCm39) |
V216F |
probably benign |
Het |
| Cyp1a1 |
G |
A |
9: 57,609,456 (GRCm39) |
V386I |
probably benign |
Het |
| Cyp2c54 |
G |
A |
19: 40,035,950 (GRCm39) |
T320I |
possibly damaging |
Het |
| Dock7 |
G |
C |
4: 98,859,088 (GRCm39) |
N1431K |
unknown |
Het |
| Fam110c |
G |
T |
12: 31,123,863 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
A |
T |
18: 58,209,747 (GRCm39) |
C1045S |
probably damaging |
Het |
| Fbxo30 |
G |
A |
10: 11,167,243 (GRCm39) |
R655H |
probably damaging |
Het |
| Fhip1b |
A |
G |
7: 105,034,296 (GRCm39) |
L445P |
possibly damaging |
Het |
| Gbp2 |
T |
C |
3: 142,338,036 (GRCm39) |
|
probably null |
Het |
| Hmgcll1 |
A |
G |
9: 75,982,083 (GRCm39) |
D176G |
probably benign |
Het |
| Inafm1 |
A |
T |
7: 16,007,055 (GRCm39) |
I54N |
probably damaging |
Het |
| Ipo9 |
C |
G |
1: 135,347,033 (GRCm39) |
M152I |
probably benign |
Het |
| Khdrbs3 |
C |
T |
15: 68,964,798 (GRCm39) |
T333M |
probably damaging |
Het |
| Lefty2 |
A |
G |
1: 180,725,145 (GRCm39) |
T292A |
probably benign |
Het |
| Lrig2 |
T |
A |
3: 104,398,324 (GRCm39) |
E268D |
probably benign |
Het |
| Mbtd1 |
T |
A |
11: 93,834,628 (GRCm39) |
L602Q |
possibly damaging |
Het |
| Mtbp |
T |
C |
15: 55,484,035 (GRCm39) |
V828A |
possibly damaging |
Het |
| Ncapd3 |
C |
A |
9: 26,975,386 (GRCm39) |
Q812K |
possibly damaging |
Het |
| Nlrx1 |
T |
C |
9: 44,165,325 (GRCm39) |
K857R |
probably benign |
Het |
| Or2b28 |
C |
T |
13: 21,532,004 (GRCm39) |
A302V |
probably damaging |
Het |
| Or4d6 |
A |
T |
19: 12,086,016 (GRCm39) |
M72K |
probably damaging |
Het |
| Or4k1 |
T |
C |
14: 50,377,829 (GRCm39) |
Y89C |
probably benign |
Het |
| Or8b1c |
C |
T |
9: 38,384,694 (GRCm39) |
S217F |
probably damaging |
Het |
| P4ha2 |
T |
C |
11: 54,017,226 (GRCm39) |
F456L |
probably benign |
Het |
| Pakap |
T |
A |
4: 57,709,595 (GRCm39) |
V180E |
probably damaging |
Het |
| Pard3b |
A |
G |
1: 62,203,344 (GRCm39) |
D424G |
probably damaging |
Het |
| Pecam1 |
A |
G |
11: 106,579,797 (GRCm39) |
S422P |
probably damaging |
Het |
| Pias2 |
T |
A |
18: 77,216,677 (GRCm39) |
V296E |
probably damaging |
Het |
| Plekha5 |
T |
A |
6: 140,501,733 (GRCm39) |
S640R |
possibly damaging |
Het |
| Prdx2 |
A |
G |
8: 85,697,932 (GRCm39) |
K92E |
possibly damaging |
Het |
| Prl7c1 |
C |
T |
13: 27,960,204 (GRCm39) |
E113K |
probably benign |
Het |
| Pxylp1 |
A |
T |
9: 96,707,111 (GRCm39) |
V357D |
possibly damaging |
Het |
| Rbm12b2 |
T |
C |
4: 12,095,471 (GRCm39) |
F777L |
probably damaging |
Het |
| Rbm4b |
G |
T |
19: 4,812,268 (GRCm39) |
V226F |
possibly damaging |
Het |
| Rel |
T |
C |
11: 23,698,870 (GRCm39) |
D139G |
probably benign |
Het |
| Rnf214 |
C |
T |
9: 45,816,129 (GRCm39) |
D28N |
probably benign |
Het |
| Slc26a5 |
A |
G |
5: 22,042,285 (GRCm39) |
S224P |
possibly damaging |
Het |
| Slc39a6 |
C |
T |
18: 24,732,323 (GRCm39) |
A322T |
probably benign |
Het |
| Slc47a1 |
T |
C |
11: 61,262,647 (GRCm39) |
I81V |
probably benign |
Het |
| Smad5 |
T |
A |
13: 56,880,815 (GRCm39) |
C310S |
probably damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,240,701 (GRCm39) |
D241G |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,721,994 (GRCm39) |
Q172* |
probably null |
Het |
| Spata31d1d |
G |
T |
13: 59,875,823 (GRCm39) |
Q571K |
probably benign |
Het |
| Speer1e |
A |
T |
5: 11,236,449 (GRCm39) |
I161F |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,440,869 (GRCm39) |
R1777H |
possibly damaging |
Het |
| Stt3b |
A |
T |
9: 115,085,223 (GRCm39) |
F381I |
probably damaging |
Het |
| Tjp1 |
T |
C |
7: 64,962,595 (GRCm39) |
Y1194C |
probably benign |
Het |
| Tmem132b |
T |
C |
5: 125,864,180 (GRCm39) |
I762T |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,891,564 (GRCm39) |
T636A |
unknown |
Het |
| Trat1 |
T |
A |
16: 48,574,637 (GRCm39) |
R54* |
probably null |
Het |
| Tubb4a |
A |
T |
17: 57,387,769 (GRCm39) |
V419E |
probably damaging |
Het |
| Txn2 |
A |
T |
15: 77,803,965 (GRCm39) |
W84R |
unknown |
Het |
| Uggt2 |
A |
G |
14: 119,279,006 (GRCm39) |
Y834H |
probably damaging |
Het |
| Upp2 |
T |
C |
2: 58,670,065 (GRCm39) |
L257P |
probably damaging |
Het |
| Vmn2r67 |
C |
T |
7: 84,802,008 (GRCm39) |
V98I |
probably benign |
Het |
| Zfp354c |
T |
C |
11: 50,706,666 (GRCm39) |
I136M |
probably benign |
Het |
|
| Other mutations in Lgr5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Lgr5
|
APN |
10 |
115,290,369 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01291:Lgr5
|
APN |
10 |
115,314,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01432:Lgr5
|
APN |
10 |
115,288,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01778:Lgr5
|
APN |
10 |
115,298,607 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01936:Lgr5
|
APN |
10 |
115,288,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02079:Lgr5
|
APN |
10 |
115,288,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02134:Lgr5
|
APN |
10 |
115,288,763 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03083:Lgr5
|
APN |
10 |
115,288,937 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL03350:Lgr5
|
APN |
10 |
115,307,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
anger
|
UTSW |
10 |
115,302,251 (GRCm39) |
missense |
probably benign |
0.03 |
|
ANU05:Lgr5
|
UTSW |
10 |
115,314,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0378:Lgr5
|
UTSW |
10 |
115,290,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0788:Lgr5
|
UTSW |
10 |
115,288,902 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1119:Lgr5
|
UTSW |
10 |
115,296,716 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1321:Lgr5
|
UTSW |
10 |
115,314,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1880:Lgr5
|
UTSW |
10 |
115,288,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1985:Lgr5
|
UTSW |
10 |
115,331,150 (GRCm39) |
splice site |
probably benign |
|
|
R2434:Lgr5
|
UTSW |
10 |
115,423,311 (GRCm39) |
missense |
probably benign |
|
|
R3055:Lgr5
|
UTSW |
10 |
115,302,028 (GRCm39) |
splice site |
probably benign |
|
|
R3910:Lgr5
|
UTSW |
10 |
115,423,368 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4686:Lgr5
|
UTSW |
10 |
115,294,648 (GRCm39) |
intron |
probably benign |
|
|
R4862:Lgr5
|
UTSW |
10 |
115,298,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Lgr5
|
UTSW |
10 |
115,288,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5089:Lgr5
|
UTSW |
10 |
115,314,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5118:Lgr5
|
UTSW |
10 |
115,288,244 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5375:Lgr5
|
UTSW |
10 |
115,314,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5537:Lgr5
|
UTSW |
10 |
115,292,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5583:Lgr5
|
UTSW |
10 |
115,314,409 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6312:Lgr5
|
UTSW |
10 |
115,288,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6362:Lgr5
|
UTSW |
10 |
115,314,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6605:Lgr5
|
UTSW |
10 |
115,293,772 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6689:Lgr5
|
UTSW |
10 |
115,302,513 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6705:Lgr5
|
UTSW |
10 |
115,423,193 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6925:Lgr5
|
UTSW |
10 |
115,302,251 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7063:Lgr5
|
UTSW |
10 |
115,292,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7261:Lgr5
|
UTSW |
10 |
115,423,370 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7274:Lgr5
|
UTSW |
10 |
115,288,410 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7458:Lgr5
|
UTSW |
10 |
115,293,660 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7569:Lgr5
|
UTSW |
10 |
115,298,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7770:Lgr5
|
UTSW |
10 |
115,307,899 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7936:Lgr5
|
UTSW |
10 |
115,288,952 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7964:Lgr5
|
UTSW |
10 |
115,288,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8085:Lgr5
|
UTSW |
10 |
115,311,102 (GRCm39) |
missense |
probably benign |
|
|
R8537:Lgr5
|
UTSW |
10 |
115,288,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8703:Lgr5
|
UTSW |
10 |
115,288,610 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8704:Lgr5
|
UTSW |
10 |
115,288,610 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8706:Lgr5
|
UTSW |
10 |
115,288,610 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8707:Lgr5
|
UTSW |
10 |
115,288,610 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9019:Lgr5
|
UTSW |
10 |
115,314,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9043:Lgr5
|
UTSW |
10 |
115,314,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9217:Lgr5
|
UTSW |
10 |
115,423,349 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9427:Lgr5
|
UTSW |
10 |
115,288,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9631:Lgr5
|
UTSW |
10 |
115,302,513 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9738:Lgr5
|
UTSW |
10 |
115,288,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Lgr5
|
UTSW |
10 |
115,296,781 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Lgr5
|
UTSW |
10 |
115,292,574 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCACTCACAAGAGATTAAAATGG -3'
(R):5'- ATACAGTGACGGCAGCACAG -3'
Sequencing Primer
(F):5'- GGAATCACAGTTTTATTGTTTAGCTC -3'
(R):5'- GGCAGCACAGGGGATTTTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation